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For: Tambuyzer E, Vandendriessche B, Austin CP, Brooks PJ, Larsson K, Miller Needleman KI, Valentine J, Davies K, Groft SC, Preti R, Oprea TI, Prunotto M. Therapies for rare diseases: therapeutic modalities, progress and challenges ahead. Nat Rev Drug Discov 2020;19:93-111. [PMID: 31836861 DOI: 10.1038/s41573-019-0049-9] [Cited by in Crossref: 46] [Cited by in F6Publishing: 41] [Article Influence: 15.3] [Reference Citation Analysis]
Number Citing Articles
1 Halley MC, Smith HS, Ashley EA, Goldenberg AJ, Tabor HK. A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States. Nat Genet. [DOI: 10.1038/s41588-022-01027-w] [Reference Citation Analysis]
2 Dvela-Levitt M, Shaw JL, Greka A. A Rare Kidney Disease To Cure Them All? Towards Mechanism-Based Therapies for Proteinopathies. Trends Mol Med 2021;27:394-409. [PMID: 33341352 DOI: 10.1016/j.molmed.2020.11.008] [Reference Citation Analysis]
3 Mariz S, Westermark K, Sepodes B. Designation of orphan conditions in Europe: regulatory observations and considerations after implementation of regulation 141/2000. Expert Opinion on Orphan Drugs 2020;8:189-96. [DOI: 10.1080/21678707.2020.1784720] [Reference Citation Analysis]
4 Listro R, Rossino G, Della Volpe S, Stabile R, Boiocchi M, Malavasi L, Rossi D, Collina S. Enantiomeric Resolution and Absolute Configuration of a Chiral δ-Lactam, Useful Intermediate for the Synthesis of Bioactive Compounds. Molecules 2020;25:E6023. [PMID: 33352660 DOI: 10.3390/molecules25246023] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
5 Stanimirovic D, Murko E, Battelino T, Groselj U, Zerjav Tansek M. Drafting a blueprint for the design of a rare disease ecosystem in Slovenia: Identifying salient opportunities and outlining policy recommendations. J Glob Health 2021;11:03064. [PMID: 34471521 DOI: 10.7189/jogh.11.03064] [Reference Citation Analysis]
6 Eichler HG, Pignatti F, Schwarzer-Daum B, Hidalgo-Simon A, Eichler I, Arlett P, Humphreys A, Vamvakas S, Brun N, Rasi G. Randomized Controlled Trials Versus Real World Evidence: Neither Magic Nor Myth. Clin Pharmacol Ther 2021;109:1212-8. [PMID: 33063841 DOI: 10.1002/cpt.2083] [Cited by in Crossref: 9] [Cited by in F6Publishing: 2] [Article Influence: 4.5] [Reference Citation Analysis]
7 Zanello G, Chan CH, Pearce DA; IRDiRC Working Group. Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients. Orphanet J Rare Dis 2022;17:181. [PMID: 35526001 DOI: 10.1186/s13023-022-02337-2] [Reference Citation Analysis]
8 Hendrickx K, Dooms M. Orphan Drugs, Compounded Medication and Pharmaceutical Commons. Front Pharmacol 2021;12:738458. [PMID: 34566662 DOI: 10.3389/fphar.2021.738458] [Reference Citation Analysis]
9 Bhattacharya K, Millis N, Jaffe A, Zurynski Y. Rare diseases research and policy in Australia: On the journey to equitable care. J Paediatr Child Health 2021;57:778-81. [PMID: 33861492 DOI: 10.1111/jpc.15507] [Reference Citation Analysis]
10 Schoser B. [Principles of translational gene therapy for neuromuscular diseases]. Nervenarzt 2022. [PMID: 35384490 DOI: 10.1007/s00115-022-01287-1] [Reference Citation Analysis]
11 Cabrini G, Rimessi A, Borgatti M, Lampronti I, Finotti A, Pinton P, Gambari R. Role of Cystic Fibrosis Bronchial Epithelium in Neutrophil Chemotaxis. Front Immunol 2020;11:1438. [PMID: 32849500 DOI: 10.3389/fimmu.2020.01438] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
12 Schmidt D, Thompson C. Case studies in rare disease small molecule discovery and development. Bioorg Med Chem Lett 2020;30:127462. [PMID: 32791196 DOI: 10.1016/j.bmcl.2020.127462] [Reference Citation Analysis]
13 Kim K, Bou-Ghannam S, Kameishi S, Oka M, Grainger DW, Okano T. Allogeneic mesenchymal stem cell sheet therapy: A new frontier in drug delivery systems. J Control Release 2021;330:696-704. [PMID: 33347942 DOI: 10.1016/j.jconrel.2020.12.028] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
14 Feng C, Chen H, Huang L, Feng Y, Chang S. The Research Landscape of Multiple Endocrine Neoplasia Type 1 (2000–2021): A Bibliometric Analysis. Front Med 2022;9:832662. [DOI: 10.3389/fmed.2022.832662] [Reference Citation Analysis]
15 Xu R, Liu Y, Zhou Y, Lin W, Yuan Q, Zhou X, Yang Y. Gnas Loss Causes Chondrocyte Fate Conversion in Cranial Suture Formation. J Dent Res. [DOI: 10.1177/00220345221075215] [Reference Citation Analysis]
16 Powell SN, Byfield G, Bennetone A, Frantz AM, Harrison LK, James-crook ER, Osborne H, Owens TH, Shaw JL, O’daniel J, Milko LV. Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population. Front Genet 2022;13:867030. [DOI: 10.3389/fgene.2022.867030] [Reference Citation Analysis]
17 Zhang Z, Zhou L, Xie N, Nice EC, Zhang T, Cui Y, Huang C. Overcoming cancer therapeutic bottleneck by drug repurposing. Signal Transduct Target Ther 2020;5:113. [PMID: 32616710 DOI: 10.1038/s41392-020-00213-8] [Cited by in Crossref: 59] [Cited by in F6Publishing: 52] [Article Influence: 29.5] [Reference Citation Analysis]
18 Yamaguchi S, Kaneko M, Narukawa M. Approval success rates of drug candidates based on target, action, modality, application, and their combinations. Clin Transl Sci 2021;14:1113-22. [PMID: 33831276 DOI: 10.1111/cts.12980] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
19 Hurvitz N, Azmanov H, Kesler A, Ilan Y. Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases. Eur J Hum Genet 2021. [PMID: 34276056 DOI: 10.1038/s41431-021-00928-4] [Reference Citation Analysis]
20 Debnath A. Drug discovery for primary amebic meningoencephalitis: from screen to identification of leads. Expert Rev Anti Infect Ther 2021;19:1099-106. [PMID: 33496193 DOI: 10.1080/14787210.2021.1882302] [Reference Citation Analysis]
21 Sahu S, Sharan SK. Translating Embryogenesis to Generate Organoids: Novel Approaches to Personalized Medicine. iScience. 2020;23:101485. [PMID: 32864586 DOI: 10.1016/j.isci.2020.101485] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 4.0] [Reference Citation Analysis]
22 Chen HY, Lehmann OJ, Swaroop A. Genetics and therapy for pediatric eye diseases. EBioMedicine 2021;67:103360. [PMID: 33975254 DOI: 10.1016/j.ebiom.2021.103360] [Reference Citation Analysis]
23 Kaczor-kamińska M, Kamiński K, Wróbel M. Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders. Antioxidants 2022;11:678. [DOI: 10.3390/antiox11040678] [Reference Citation Analysis]
24 Abou-El-Enein M, Angelis A, Appelbaum FR, Andrews NC, Bates SE, Bierman AS, Brenner MK, Cavazzana M, Caligiuri MA, Clevers H, Cooke E, Daley GQ, Dzau VJ, Ellis LM, Fineberg HV, Goldstein LSB, Gottschalk S, Hamburg MA, Ingber DE, Kohn DB, Krainer AR, Maus MV, Marks P, Mummery CL, Pettigrew RI, Rutter JL, Teichmann SA, Terzic A, Urnov FD, Williams DA, Wolchok JD, Lawler M, Turtle CJ, Bauer G, Ioannidis JPA. Evidence generation and reproducibility in cell and gene therapy research: A call to action. Mol Ther Methods Clin Dev 2021;22:11-4. [PMID: 34377737 DOI: 10.1016/j.omtm.2021.06.012] [Reference Citation Analysis]
25 Leineweber FV, Bermudez JAZ. Technologies for COVID-19 and innovative therapies: contemporary challenges. Cad Saude Publica 2021;37:e00158121. [PMID: 34909929 DOI: 10.1590/0102-311X00158121] [Reference Citation Analysis]
26 Sebastiano MR, Ermondi G, Hadano S, Caron G. AI-based protein structure databases have the potential to accelerate rare diseases research: AlphaFoldDB and the case of IAHSP/Alsin. Drug Discov Today 2021:S1359-6446(21)00570-5. [PMID: 34958957 DOI: 10.1016/j.drudis.2021.12.018] [Reference Citation Analysis]
27 Schilff M, Sargsyan Y, Hofhuis J, Thoms S. Stop Codon Context-Specific Induction of Translational Readthrough. Biomolecules 2021;11:1006. [PMID: 34356630 DOI: 10.3390/biom11071006] [Reference Citation Analysis]
28 Taiber S, Cohen R, Yizhar-Barnea O, Sprinzak D, Holt JR, Avraham KB. Neonatal AAV gene therapy rescues hearing in a mouse model of SYNE4 deafness. EMBO Mol Med 2021;13:e13259. [PMID: 33350593 DOI: 10.15252/emmm.202013259] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
29 Rahaghi FF. Alpha-1 antitrypsin deficiency research and emerging treatment strategies: what's down the road? Ther Adv Chronic Dis 2021;12_suppl:20406223211014025. [PMID: 34408832 DOI: 10.1177/20406223211014025] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
30 Liu J, Lu X, Wu T, Wu X, Han L, Ding B. Branched Antisense and siRNA Co-Assembled Nanoplatform for Combined Gene Silencing and Tumor Therapy. Angew Chem Int Ed Engl 2021;60:1853-60. [PMID: 33058467 DOI: 10.1002/anie.202011174] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
31 Stanimirovic D, Murko E, Battelino T, Groselj U, Zerjav Tansek M. Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach. Int J Environ Res Public Health 2021;18:12395. [PMID: 34886121 DOI: 10.3390/ijerph182312395] [Reference Citation Analysis]
32 Sokolov AV, Dostdar SA, Attwood MM, Krasilnikova AA, Ilina AA, Nabieva AS, Lisitsyna AA, Chubarev VN, Tarasov VV, Schiöth HB. Brain Cancer Drug Discovery: Clinical Trials, Drug Classes, Targets, and Combinatorial Therapies. Pharmacol Rev 2021;73:1-32. [PMID: 34663683 DOI: 10.1124/pharmrev.121.000317] [Reference Citation Analysis]
33 Choi DK, Kim YK, HoonYu J, Min SH, Park SW. Genome editing of hPSCs: Recent progress in hPSC-based disease modeling for understanding disease mechanisms. Prog Mol Biol Transl Sci 2021;181:271-87. [PMID: 34127196 DOI: 10.1016/bs.pmbts.2021.01.020] [Reference Citation Analysis]
34 van den Berg S, de Visser S, Leufkens HGM, Hollak CEM. Drug Repurposing for Rare Diseases: A Role for Academia. Front Pharmacol 2021;12:746987. [PMID: 34744726 DOI: 10.3389/fphar.2021.746987] [Reference Citation Analysis]
35 Zhao L, Ciallella HL, Aleksunes LM, Zhu H. Advancing computer-aided drug discovery (CADD) by big data and data-driven machine learning modeling. Drug Discov Today 2020;25:1624-38. [PMID: 32663517 DOI: 10.1016/j.drudis.2020.07.005] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 6.0] [Reference Citation Analysis]
36 Gumeni S, Vantaggiato C, Montopoli M, Orso G. Hereditary Spastic Paraplegia and Future Therapeutic Directions: Beneficial Effects of Small Compounds Acting on Cellular Stress. Front Neurosci 2021;15:660714. [PMID: 34025345 DOI: 10.3389/fnins.2021.660714] [Reference Citation Analysis]
37 Huang Y, Chao W, Wang C, Chang L. Orphan drug development: the impact of regulatory and reimbursement frameworks. Drug Discovery Today 2022. [DOI: 10.1016/j.drudis.2022.03.002] [Reference Citation Analysis]
38 Wu X, Liu Q, Liu F, Wu T, Shang Y, Liu J, Ding B. An RNA/DNA hybrid origami-based nanoplatform for efficient gene therapy. Nanoscale 2021;13:12848-53. [PMID: 34477769 DOI: 10.1039/d1nr00517k] [Reference Citation Analysis]
39 Avram S, Bologa CG, Holmes J, Bocci G, Wilson TB, Nguyen DT, Curpan R, Halip L, Bora A, Yang JJ, Knockel J, Sirimulla S, Ursu O, Oprea TI. DrugCentral 2021 supports drug discovery and repositioning. Nucleic Acids Res 2021;49:D1160-9. [PMID: 33151287 DOI: 10.1093/nar/gkaa997] [Cited by in Crossref: 17] [Cited by in F6Publishing: 13] [Article Influence: 17.0] [Reference Citation Analysis]
40 Avram S, Curpan R, Halip L, Bora A, Oprea TI. Off-Patent Drug Repositioning. J Chem Inf Model 2020;60:5746-53. [PMID: 32877182 DOI: 10.1021/acs.jcim.0c00826] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
41 Liu J, Lu X, Wu T, Wu X, Han L, Ding B. Branched Antisense and siRNA Co‐Assembled Nanoplatform for Combined Gene Silencing and Tumor Therapy. Angew Chem 2021;133:1881-8. [DOI: 10.1002/ange.202011174] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
42 Liu T, Xu J, Guo Q, Zhang D, Li J, Qian W, Guo H, Zhou X, Hou S. Identification, Efficacy, and Stability Evaluation of Succinimide Modification With a High Abundance in the Framework Region of Golimumab. Front Chem 2022;10:826923. [DOI: 10.3389/fchem.2022.826923] [Reference Citation Analysis]
43 Eichler HG, Trusheim M, Schwarzer-Daum B, Larholt K, Zeitlinger M, Brunninger M, Sherman M, Strutton D, Hirsch G. Precision Reimbursement for Precision Medicine: Using Real-World Evidence to Evolve From Trial-and-Project to Track-and-Pay to Learn-and-Predict. Clin Pharmacol Ther 2022;111:52-62. [PMID: 34716918 DOI: 10.1002/cpt.2471] [Reference Citation Analysis]
44 Kong W, Yao Y, Zhang J, Lu C, Ding Y, Meng Y. Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome). European Journal of Pharmacology 2020;888:173562. [DOI: 10.1016/j.ejphar.2020.173562] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
45 Kong W, Zhang J, Lu C, Ding Y, Meng Y. Glaucoma in mucopolysaccharidoses. Orphanet J Rare Dis 2021;16:312. [PMID: 34266471 DOI: 10.1186/s13023-021-01935-w] [Reference Citation Analysis]
46 Vaisitti T, Peritore D, Magistroni P, Ricci A, Lombardini L, Gringeri E, Catalano S, Spada M, Sciveres M, Di Giorgio A, Limongelli G, Varrenti M, Gerosa G, Terzi A, Pace Napoleone C, Amodeo A, Ragni L, Strologo LD, Benetti E, Fontana I, Testa S, Peruzzi L, Mitrotti A, Abbate S, Comai G, Gotti E, Schiavon M, Boffini M, De Angelis D, Bertani A, Pinelli D, Torre M, Poggi C, Deaglio S, Cardillo M, Amoroso A; Italian Pediatric Transplant Centers. The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy. Orphanet J Rare Dis 2021;16:374. [PMID: 34481500 DOI: 10.1186/s13023-021-02013-x] [Reference Citation Analysis]
47 Privolizzi R, Chu WS, Tijani M, Ng J. Viral gene therapy for paediatric neurological diseases: progress to clinical reality. Dev Med Child Neurol 2021;63:1019-29. [PMID: 33834479 DOI: 10.1111/dmcn.14885] [Reference Citation Analysis]
48 Pinto PC, Rönnau C, Burchardt M, Wolff I. Kidney Cancer and Chronic Kidney Disease: Too Close for Comfort. Biomedicines 2021;9:1761. [PMID: 34944574 DOI: 10.3390/biomedicines9121761] [Reference Citation Analysis]
49 Banella S, Quarta E, Colombo P, Sonvico F, Pagnoni A, Bortolotti F, Colombo G. Orphan Designation and Cisplatin/Hyaluronan Complex in an Intracavitary Film for Malignant Mesothelioma. Pharmaceutics 2021;13:362. [PMID: 33803276 DOI: 10.3390/pharmaceutics13030362] [Reference Citation Analysis]
50 Fernàndez-castillo N, Cabana-domínguez J, Kappel DB, Torrico B, Weber H, Lesch K, Lao O, Reif A, Cormand B. Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention. Genes 2022;13:93. [DOI: 10.3390/genes13010093] [Reference Citation Analysis]
51 Clarke S, Ellis M, Brownrigg J. The impact of rarity in NICE's health technology appraisals. Orphanet J Rare Dis 2021;16:218. [PMID: 33985575 DOI: 10.1186/s13023-021-01845-x] [Reference Citation Analysis]
52 Kong W, Lu C, Ding Y, Meng Y. Molecular environment and atypical function: What do we know about enzymes associated with Mucopolysaccharidoses? Orphanet J Rare Dis 2022;17:112. [PMID: 35246201 DOI: 10.1186/s13023-022-02211-1] [Reference Citation Analysis]
53 Goto S, Mahara K, Beussink-Nelson L, Ikura H, Katsumata Y, Endo J, Gaggin HK, Shah SJ, Itabashi Y, MacRae CA, Deo RC. Artificial intelligence-enabled fully automated detection of cardiac amyloidosis using electrocardiograms and echocardiograms. Nat Commun 2021;12:2726. [PMID: 33976142 DOI: 10.1038/s41467-021-22877-8] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 5.0] [Reference Citation Analysis]
54 Fitzgerald J, Gallagher L. Parental stress and adjustment in the context of rare genetic syndromes: A scoping review. J Intellect Disabil 2021;:1744629521995378. [PMID: 33866895 DOI: 10.1177/1744629521995378] [Reference Citation Analysis]
55 Giordano R, Canesi M, Isalberti M, Marfia G, Campanella R, Vincenti D, Cereda V, Ranghetti A, Palmisano C, Isaias IU, Benti R, Marotta G, Lazzari L, Montemurro T, Viganò M, Budelli S, Montelatici E, Lavazza C, Rivera-Ordaz A, Pezzoli G. Safety and Effectiveness of Cell Therapy in Neurodegenerative Diseases: Take-Home Messages From a Pilot Feasibility Phase I Study of Progressive Supranuclear Palsy. Front Neurosci 2021;15:723227. [PMID: 34712113 DOI: 10.3389/fnins.2021.723227] [Reference Citation Analysis]
56 Kennedy C, O'Dea E, Reidy D, Towns J, Pigott M, Kevans D, O'Rourke D, Hennessy M. Challenging times: Delivering gene therapies and an opportunity for shared learning. Br J Clin Pharmacol 2021. [PMID: 34750854 DOI: 10.1111/bcp.15125] [Reference Citation Analysis]
57 Kong W, Wu S, Zhang J, Lu C, Ding Y, Meng Y. Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis. J Pediatr Endocrinol Metab 2021. [PMID: 34271605 DOI: 10.1515/jpem-2020-0742] [Reference Citation Analysis]
58 Wang Y, Hu LF, Zhou TJ, Qi LY, Xing L, Lee J, Wang FZ, Oh YK, Jiang HL. Gene therapy strategies for rare monogenic disorders with nuclear or mitochondrial gene mutations. Biomaterials 2021;277:121108. [PMID: 34478929 DOI: 10.1016/j.biomaterials.2021.121108] [Reference Citation Analysis]
59 Festa BP, Berquez M, Nieri D, Luciani A. Endolysosomal Disorders Affecting the Proximal Tubule of the Kidney: New Mechanistic Insights and Therapeutics. Rev Physiol Biochem Pharmacol 2021. [PMID: 33649992 DOI: 10.1007/112_2020_57] [Reference Citation Analysis]
60 Post AEM, Klockgether T, Landwehrmeyer GB, Pandolfo M, Arnesen A, Reinhard C, Graessner H. Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases. Orphanet J Rare Dis 2021;16:135. [PMID: 33736655 DOI: 10.1186/s13023-020-01641-z] [Reference Citation Analysis]
61 [DOI: 10.1101/2020.07.02.20141028] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
62 Falzarano MS, Argenziano M, Marsollier AC, Mariot V, Rossi D, Selvatici R, Dumonceaux J, Cavalli R, Ferlini A. Chitosan-Shelled Nanobubbles Irreversibly Encapsulate Morpholino Conjugate Antisense Oligonucleotides and Are Ineffective for Phosphorodiamidate Morpholino-Mediated Gene Silencing of DUX4. Nucleic Acid Ther 2021;31:201-7. [PMID: 32679000 DOI: 10.1089/nat.2020.0862] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
63 MacRae CA, Deo RC, Shaw SY. Ecosystem Barriers to Innovation Adoption in Clinical Practice. Trends Mol Med 2021;27:5-7. [PMID: 33293198 DOI: 10.1016/j.molmed.2020.11.007] [Reference Citation Analysis]